Abnormal facial shape, and Apnea

Diseases related with Abnormal facial shape and Apnea

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Apnea that can help you solving undiagnosed cases.


Top matches:

Low match X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION


X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1 ) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015).

X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION Is also known as x-linked acrogigantism|familial infantile gigantism due to xq26 microduplication|familial infantile gigantism due to dup(x)q(26)|xlag|chromosome xq26 microduplication syndrome|x-lag (x-linked acrogigantism) due to dup(x)q(26)

Related symptoms:

  • Neoplasm
  • Coarse facial features
  • Overgrowth
  • Ventricular hypertrophy
  • Tall stature


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

Low match PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Low match 16P13.2 MICRODELETION SYNDROME


16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION SYNDROME

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Other less relevant matches:

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Low match CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME


Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome|cortical dysplasia-focal epilepsy syndrome|cdfes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Low match CHERUBISM


Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.

CHERUBISM Is also known as crbm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHERUBISM

Low match BRANCHIOOTIC SYNDROME


Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1|branchiootic dysplasia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIOOTIC SYNDROME

Low match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Low match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Apnea

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Apnea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sleep apnea Autistic behavior

Rare Symptoms - Less than 30% cases


Respiratory distress Absent speech Aggressive behavior Neonatal hypotonia Hypertelorism Neoplasm Large fontanelles Short stature Ptosis Cleft palate Thick vermilion border Micrognathia Upper airway obstruction Obstructive sleep apnea Wide nasal bridge Coarse facial features Full cheeks Round face Poor speech Respiratory insufficiency Failure to thrive Depressed nasal bridge Hepatomegaly Anteverted nares Body odor Short neck Macular scar Broad jaw Marcus Gunn pupil Lower eyelid retraction Hearing impairment Interphalangeal joint contracture of finger Sensorineural hearing impairment Toe syndactyly Arachnodactyly Retrognathia Conductive hearing impairment Facial palsy Abnormality of the kidney Abnormality of the pinna Microtia Facial asymmetry Preauricular skin tag Abnormality of the outer ear Severe global developmental delay Laryngomalacia Abnormality of the mandible Clubbing of fingers Bone cyst Progressive visual loss Abnormality of the dentition Visual loss Reduced visual acuity Proptosis Feeding difficulties in infancy Abnormality iris morphology Abnormal oral frenulum morphology Craniosynostosis Scarring Oligodontia Small for gestational age Hand clenching Abnormality of the voice Clubbing Small face Abnormality of dental morphology Constriction of peripheral visual field Striae distensae Optic neuropathy Central apnea Long fingers Atresia of the external auditory canal Mixed hearing impairment Cupped ear Easy fatigability Long face Falls Generalized muscle weakness Dental malocclusion Decreased fetal movement Coloboma Frequent falls Narrow palpebral fissure Low-set, posteriorly rotated ears Microphthalmia Respiratory tract infection Poor suck Gowers sign Multiple joint contractures Prominent occiput Weak cry Fatigable weakness Growth delay Cataract Downslanted palpebral fissures Arthrogryposis multiplex congenita Mandibular prognathia Preauricular pit Lip pit Behavioral abnormality Severe sensorineural hearing impairment Glossoptosis Abnormal nasolacrimal system morphology Branchial cyst Abnormality of the inner ear Branchial fistula Short philtrum Tracheobronchomalacia Cochlear malformation Feeding difficulties Hypoplasia of the cochlea Branchial anomaly Morphological abnormality of the middle ear Peripheral neuropathy Dilatated internal auditory canal Camptodactyly of finger Muscle weakness Flexion contracture High palate Optic atrophy Respiratory failure Visual impairment Hallux valgus Large face Strabismus Muscular hypotonia Cryptorchidism Delayed speech and language development Clinodactyly of the 5th finger Micropenis Autism Apraxia Trigonocephaly Delayed cranial suture closure Multiple renal cysts Speech apraxia Perseveration Central sleep apnea Premature adrenarche Microcephaly Anemia Ventriculomegaly Hypoplasia of the corpus callosum Vomiting Hypertonia Severe failure to thrive CNS hypomyelination Acidosis Long foot Overgrowth Ventricular hypertrophy Tall stature Accelerated skeletal maturation Acanthosis nigricans Precocious puberty Large hands Polyphagia Hypopituitarism Growth hormone excess Pituitary adenoma Infantile muscular hypotonia Snoring High forehead Elevated hepatic transaminase Polymicrogyria Renal cyst Triangular face Wide anterior fontanel Decreased liver function Severe muscular hypotonia Lissencephaly Myoclonus Generalized tonic-clonic seizures Subglottic stenosis Long philtrum Language impairment Loss of consciousness Cortical dysplasia Hyperventilation Bruxism Impaired social interactions Unilateral ptosis Flared nostrils Progressive language deterioration Brachydactyly Pneumonia Reduced tendon reflexes Dyspnea Joint stiffness Bulbous nose Small hand Limb undergrowth Mitral regurgitation Thickened skin Hoarse voice Epiphyseal dysplasia Pulmonary artery stenosis Delayed gross motor development Stereotypy Metabolic acidosis Motor delay Abdominal distention Brain atrophy Postnatal microcephaly Clonus Muscle fibrillation Enterocolitis Fetal distress Prenatal movement abnormality Ataxia Spasticity Intellectual disability, severe Hypertrichosis Hyporeflexia Cerebellar hypoplasia Hyperactivity EEG abnormality Abnormality of the nervous system Developmental regression Wide mouth Neurological speech impairment Focal-onset seizure Generalized-onset seizure Bullet-shaped distal phalanx of the hallux



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